TY - JOUR
T1 - A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome
AU - Yoon, Yoonsun
AU - Kim, Kyungju
AU - Yeom, Suk Keu
AU - Lee, Jee Hyun
AU - Lee, Yoon
N1 - Publisher Copyright:
© 2018 the Author(s). Published by Wolters Kluwer Health, Inc.
PY - 2018/9/1
Y1 - 2018/9/1
N2 - Rationale: The clinical manifestations of VACTERL association include vertebral anomalies, anal atresia, congenital heart diseases, tracheoesophageal fistula, renal dysplasia, and limb abnormalities. The association of intrahepatic anomalies and VACTERL syndrome is a rare coincidence. VACTER syndrome and intrahepatic bile drainage anomalies might be genetically related. Patient concerns: A 12-year-old girl presented with episodic colicky abdominal pain, nausea, and vomiting for several years. The individual episodes resolved spontaneously within a few days. She had a history of VACTERL syndrome, including a butterfly shape of the L3 vertebra, anal atresia, and an atrial septal defect. Diagnoses: On laboratory findings, abnormal liver function tests included elevated total bilirubin, alanine aminotransferase, aspartate aminotransferase, and gamma-glutamyltransferase. There was no significant abnormal finding in hepatobiliary system sonography except mild gallbladder wall thickening. We performed magnetic resonance cholangiopancreatography and demonstrated an abnormal intrahepatic bile duct confluence, which showed 3 bile ducts draining directly into the neck of the gallbladder. Intervention: Her symptoms related to bile reflux during gallbladder contraction. Cholecystectomy with choledochojejunostomy was undertaken because segments of the bile drainage were intertwined. Outcomes: After surgery, her symptoms decreased, but abdominal discomfort remained due to uncorrected left intrahepatic anomalies. Lessons: Although hepatobiliary anomalies are not included in VACTERL association diagnostic criteria, detailed hepatobiliary work up is needed when gastrointestinal symptoms are present in VACTERL association patients.
AB - Rationale: The clinical manifestations of VACTERL association include vertebral anomalies, anal atresia, congenital heart diseases, tracheoesophageal fistula, renal dysplasia, and limb abnormalities. The association of intrahepatic anomalies and VACTERL syndrome is a rare coincidence. VACTER syndrome and intrahepatic bile drainage anomalies might be genetically related. Patient concerns: A 12-year-old girl presented with episodic colicky abdominal pain, nausea, and vomiting for several years. The individual episodes resolved spontaneously within a few days. She had a history of VACTERL syndrome, including a butterfly shape of the L3 vertebra, anal atresia, and an atrial septal defect. Diagnoses: On laboratory findings, abnormal liver function tests included elevated total bilirubin, alanine aminotransferase, aspartate aminotransferase, and gamma-glutamyltransferase. There was no significant abnormal finding in hepatobiliary system sonography except mild gallbladder wall thickening. We performed magnetic resonance cholangiopancreatography and demonstrated an abnormal intrahepatic bile duct confluence, which showed 3 bile ducts draining directly into the neck of the gallbladder. Intervention: Her symptoms related to bile reflux during gallbladder contraction. Cholecystectomy with choledochojejunostomy was undertaken because segments of the bile drainage were intertwined. Outcomes: After surgery, her symptoms decreased, but abdominal discomfort remained due to uncorrected left intrahepatic anomalies. Lessons: Although hepatobiliary anomalies are not included in VACTERL association diagnostic criteria, detailed hepatobiliary work up is needed when gastrointestinal symptoms are present in VACTERL association patients.
KW - Gallbladder
KW - Intrahepatic bile duct
KW - VACTERL syndrome
UR - http://www.scopus.com/inward/record.url?scp=85054418069&partnerID=8YFLogxK
U2 - 10.1097/MD.0000000000012411
DO - 10.1097/MD.0000000000012411
M3 - Article
C2 - 30278516
AN - SCOPUS:85054418069
VL - 97
JO - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
JF - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
SN - 0025-7974
IS - 39
M1 - e12411
ER -